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chondrodysplasia puncta´ta a heterogeneous group of bone dysplasias, the common characteristic of which is stippling of the epiphyses in infancy. The group includes a severe autosomal recessive form (rhizomelic dwarfism), an autosomal dominant form (Conradi-Hünermann syndrome), and a milder X-linked form.
a developmental disorder characterized by epiphysial stippling, coronal clefting of the vertebrae, dwarfism with rhizomelic shortening of the limbs, joint contractures, congenital cataracts, ichthyosis, and mental retardation. Autosomal dominant and recessive and X-linked forms exist.
an inherited form of dwarfism characterized by skin lesions, radiographic evidence of epiphyseal stippling, and a pug nose. There are two types of the anomaly: a benign Conradi-Hünermann form marked by mild asymmetric limb shortening and a lethal rhizomelic form with marked proximal limb shortening. The Conradi-Hunermann form of the disorder is transmitted by an autosomal-dominant gene and the rhizomelic form by an autosomal-recessive gene.
chondrodysplasia punctataA clinically and genetically heterogeneous group of conditions characterised by skeletal defects and stippled epiphyses.
Chondrodysplasia punctata types
• Autosomal dominant chondrodysplasia punctate, MIM 118650.
• Conradi-Hünermann syndrome, MIM 302960.
• Rhizomelic chondrodysplasia punctate, MIM 215100, 222765.
• X-linked recessive chondrodysplasia punctate, MIM 302950.